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Major Facilitator Superfamily Domain Containing 8 (MFSD8) ELISA Kits

MFSD8 encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Additionally we are shipping Major Facilitator Superfamily Domain Containing 8 Antibodies (3) and and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human MFSD8 MFSD8 256471 Q8NHS3
Anti-Mouse MFSD8 MFSD8 72175 Q8BH31
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More ELISA Kits for Major Facilitator Superfamily Domain Containing 8 Interaction Partners

Human Major Facilitator Superfamily Domain Containing 8 (MFSD8) interaction partners

  1. MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 (show MECP2 ELISA Kits) mutation

  2. A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis (show CLN6 ELISA Kits).

  3. In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement.

  4. This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease.

  5. Expression and lysosomal targeting of CLN7 are reported.

  6. MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2.

  7. Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family

  8. Study contributes to a better molecular characterization of Italian NCL (show CLN5 ELISA Kits) cases, and will facilitate medical genetic counseling in such families.

  9. CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL (show CLN5 ELISA Kits) in different populations.

  10. Data show that neuronal ceroid lipofuscinosis (show CLN6 ELISA Kits) in a Saudi family is due to a homozygous novel mutation in the most recently described NCL (show CLN5 ELISA Kits) gene (MFSD8).

Major Facilitator Superfamily Domain Containing 8 (MFSD8) Antigen Profile

Antigen Summary

This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL).

Gene names and symbols associated with MFSD8

  • major facilitator superfamily domain containing 8 (MFSD8) antibody
  • major facilitator superfamily domain containing 8 (Mfsd8) antibody
  • major facilitator superfamily domain containing 8 (mfsd8) antibody
  • 2810423E13Rik antibody
  • AI836898 antibody
  • AV142426 antibody
  • Cln7 antibody

Protein level used designations for MFSD8

ceroid-lipofuscinosis neuronal protein 7 , ceroid-lipofuscinosis, neuronal 7, late infantile , major facilitator superfamily domain-containing protein 8

GENE ID SPECIES
256471 Homo sapiens
72175 Mus musculus
444062 Xenopus laevis
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